Publicação
New splicing mutation in the cystatin B gene
| dc.contributor.author | Amaral, Olga | |
| dc.contributor.author | Freitas, Joel | |
| dc.contributor.author | Pinto, Eugénia | |
| dc.contributor.author | Duarte, Ana Joana | |
| dc.contributor.author | Ribeiro, Isaura | |
| dc.contributor.author | Ribeiro, Diogo | |
| dc.contributor.author | Chaves, João | |
| dc.date.accessioned | 2012-02-13T11:55:31Z | |
| dc.date.available | 2012-02-13T11:55:31Z | |
| dc.date.issued | 2011-09 | |
| dc.description | AJD and DR are both recipients of FCT grants. | por |
| dc.description.sponsorship | This work was financially supported by National Funds through FCT - Fundação da Ciência e Tecnologia (MCTES – Portugal) under Project «PIC/IC/82822/2007». | por |
| dc.identifier.uri | http://hdl.handle.net/10400.18/512 | |
| dc.language.iso | eng | por |
| dc.peerreviewed | yes | por |
| dc.publisher | European Study Group on Lysosomal Diseases | por |
| dc.subject | Doenças Genéticas | por |
| dc.subject | Epilepsia | por |
| dc.subject | Genetic Disease | por |
| dc.subject | Cistatina | por |
| dc.title | New splicing mutation in the cystatin B gene | por |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.awardURI | info:eu-repo/grantAgreement/FCT/5646-ICCMS/PIC%2FIC%2F82822%2F2007/PT | |
| oaire.citation.conferencePlace | Langvik, Finlandia | por |
| oaire.citation.title | 18th ESGLD Meeting, September 3-6, 2011 | por |
| oaire.fundingStream | 5646-ICCMS | |
| project.funder.identifier | http://doi.org/10.13039/501100001871 | |
| project.funder.name | Fundação para a Ciência e a Tecnologia | |
| rcaap.rights | restrictedAccess | por |
| rcaap.type | conferenceObject | por |
| relation.isProjectOfPublication | b8dae1fe-2a52-46cc-9d8c-951a08bfa219 | |
| relation.isProjectOfPublication.latestForDiscovery | b8dae1fe-2a52-46cc-9d8c-951a08bfa219 |